The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance

Clinical Validation of a Genome-Wide DNA Methylation Assay for Molecular Diagnosis of Imprinting Disorders

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Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome

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DNA methylation analysis in constitutional disorders: Clinical implications of the epigenome

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Mutation Update for Kabuki Syndrome GenesKMT2DandKDM6Aand Further Delineation of X-Linked Kabuki Syndrome Subtype 2

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Clinical Validation of Fragile X Syndrome Screening by DNA Methylation Array

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Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy

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The defining DNA methylation signature of Floating-Harbor Syndrome

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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

The Mendelian disorders of the epigenetic machinery

(2015) Hans Tomas Bjornsson   GENOME RESEARCH

limma powers differential expression analyses for RNA-sequencing and microarray studies

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Building Predictive Models inRUsing thecaretPackage

(2015) Max Kuhn   Journal of Statistical Software

Mendelian Disorders of the Epigenetic Machinery: Tipping the Balance of Chromatin States

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Understanding the relationship between DNA methylation and histone lysine methylation

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UTX and MLL4 Coordinately Regulate Transcriptional Programs for Cell Proliferation and Invasiveness in Breast Cancer Cells

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Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients

(2014) Lucia Micale et al.   HUMAN MUTATION

Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome

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Discovery of cross-reactive probes and polymorphic CpGs in the Illumina Infinium HumanMethylation450 microarray

(2013) Yi-an Chen et al.   Epigenetics

Unmasking Kabuki syndrome

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Bump hunting to identify differentially methylated regions in epigenetic epidemiology studies

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Global identification of MLL2-targeted loci reveals MLL2's role in diverse signaling pathways

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Regulation of mammalian DNA methyltransferases: a route to new mechanisms

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HOXC6 Is Transcriptionally Regulated via Coordination of MLL Histone Methylase and Estrogen Receptor in an Estrogen Environment

(2011) Khairul I. Ansari et al.   JOURNAL OF MOLECULAR BIOLOGY

Linking DNA methylation and histone modification: patterns and paradigms

(2009) Howard Cedar et al.   NATURE REVIEWS GENETICS

Are MYO1C and MYO1F associated with hearing loss?

(2008) Cristina Zadro et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE